All variants in the FBLN5 gene

Information The variants shown are described using the NM_006329.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 7 c.649T>C r.(?) p.(Cys217Arg) - pathogenic g.92353627A>G g.91887283A>G - - FBLN5_000002 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline yes - - - - Bert Callewaert
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